Delphine Trochet

Delphine Trochet

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Delphine Trochet

Delphine Trochet

Publications by authors named "Delphine Trochet"

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Impaired excitation-contraction coupling in muscle fibres from the dynamin2 mouse model of centronuclear myopathy.

J Physiol 2017 12 21;595(24):7369-7382. Epub 2017 Nov 21.

Univ Lyon, Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, Villeurbanne, France.

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http://doi.wiley.com/10.1113/JP274990
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http://dx.doi.org/10.1113/JP274990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5730838PMC
December 2017

Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing.

Mol Ther Nucleic Acids 2016 Sep 13;5(9):e362. Epub 2016 Sep 13.

Research Center for Myology, Institute of Myology, UPMC Univ Paris, Paris, France.

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http://dx.doi.org/10.1038/mtna.2016.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056991PMC
September 2016

Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls.

Curr Gene Ther 2015 ;15(5):503-10

Inserm/UPMC UMR_S974, CNRS FRE3617, Institut de Myologie, Paris, France.

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May 2016

Telomere regulation during ageing and tumorigenesis of the grey mouse lemur.

Biochimie 2015 Jun 14;113:100-10. Epub 2015 Apr 14.

Structure et Instabilité des Génomes, Sorbonne Universités, Muséum National d'Histoire Naturelle, Inserm U 1154, CNRS UMR 7196, CP26, 57 rue Cuvier, 75005 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2015.04.002DOI Listing
June 2015

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.

J Clin Invest 2012 Sep 27;122(9):3145-58. Epub 2012 Aug 27.

Laboratory for Neuronal Differentiation and Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan.

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http://dx.doi.org/10.1172/JCI63401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428093PMC
September 2012

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Hum Mutat 2009 Feb;30(2):E421-31

INSERM U781 et Département de Génétique, Hôpital Necker-Enfants Malades, Université Paris Descartes, Faculté de Médecine, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

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http://dx.doi.org/10.1002/humu.20923DOI Listing
February 2009

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

Hum Mutat 2008 May;29(5):770

Université Paris 5-Descartes, INSERM U-781, AP-HP, Hôpital Necker-Enfant Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.20727DOI Listing
May 2008

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.

Am J Respir Crit Care Med 2008 Apr 13;177(8):906-11. Epub 2007 Dec 13.

Département de Génétique, Hôpital Necker-Enfants Malades 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.200707-1079O
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http://dx.doi.org/10.1164/rccm.200707-1079OCDOI Listing
April 2008

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.

Hum Genet 2007 Dec 24;122(5):467-76. Epub 2007 Aug 24.

Faculty of Medicine René Descartes, Paris V, Site Necker, Institut National de la Santé et de la Recherche Médicale U845 and Pediatric Endocrine Unit Assistance Publique-Hôpitaux de PARIS, Hôpital Necker Enfants-Malades, Paris, France.

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http://dx.doi.org/10.1007/s00439-007-0420-5DOI Listing
December 2007

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.

Eur J Cancer 2007 Nov 31;43(16):2366-72. Epub 2007 Aug 31.

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-781, et Département de Génétique, Université René-Descartes, Faculté de Médecine, Hôpitaux de Paris, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1016/j.ejca.2007.07.016DOI Listing
November 2007

PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome.

Chin Med J (Engl) 2006 Oct;119(20):1749-52

Clinical Genetic Service, Department of Health, Hong Kong SAR, China.

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October 2006

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.

Hum Mol Genet 2005 Dec 25;14(23):3697-708. Epub 2005 Oct 25.

Université Paris-Descartes, Faculté de Médecine; INSERM; AP-HP, Hôpital Necker-Enfants Malades, INSERM U-393, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddi401DOI Listing
December 2005

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

Cancer Lett 2005 Oct;228(1-2):51-8

Laboratoire de Pathologie Moléculaire des Cancers, INSERM U-509, Institut Curie, 26 rue d'Ulm, 75248 Paris Cedex 05, France.

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http://dx.doi.org/10.1016/j.canlet.2005.01.055DOI Listing
October 2005

Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.

Pediatrics 2005 Jun;115(6):e737-8

Royal North Shore Hospital, St Leonards, New South Wales, Australia.

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http://dx.doi.org/10.1542/peds.2004-1910DOI Listing
June 2005

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

Am J Hum Genet 2005 Mar 18;76(3):421-6. Epub 2005 Jan 18.

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1086/428366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196394PMC
March 2005

PHOX2B gene mutation in a patient with late-onset central hypoventilation.

Pediatr Pulmonol 2004 Oct;38(4):349-51

Service de Physiologie, INSERM E-9935, Hôpital Robert Debré, Université Paris 7, Paris, France.

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http://doi.wiley.com/10.1002/ppul.20074
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http://dx.doi.org/10.1002/ppul.20074DOI Listing
October 2004

Polyalanine expansions in human.

Hum Mol Genet 2004 Oct;13 Spec No 2:R235-43

Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddh251DOI Listing
October 2004

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

Am J Hum Genet 2004 Apr 11;74(4):761-4. Epub 2004 Mar 11.

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, and Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970761902
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http://dx.doi.org/10.1086/383253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181953PMC
April 2004

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Nat Genet 2003 Apr 17;33(4):459-61. Epub 2003 Mar 17.

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, et Département de Génétique, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://www.nature.com/articles/ng1130
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http://dx.doi.org/10.1038/ng1130DOI Listing
April 2003